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PLoS ONE, ISSN 1932-6203, 2009, Volume 4, Issue 4, pp. e5234 - e5234
Journal Article
Journal Article
Expert Review of Anti-infective Therapy, ISSN 1478-7210, 08/2012, Volume 10, Issue 8, pp. 881 - 894
Journal Article
American Journal of Hematology, ISSN 0361-8609, 01/2017, Volume 92, Issue 1, pp. 28 - 36
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 1, pp. 54 - 65
Journal Article
Journal Article
Journal of clinical immunology, ISSN 0271-9142, 2012, Volume 32, Issue 3, pp. 454 - 466
Background There is a paucity of data on the relationship between demographic characteristics, specific clinical manifestations, and neutrophil dysfunction,... 
superoxide production | Medical Microbiology | hyperimmunoglobulin-E syndrome | chronic granulomatous disease | Internal Medicine | leukocyte adhesion deficiency | neutrophil | Bactericidal activity | recurrent pyogenic infections | Biomedicine | Immunology | Chediak–Higashi syndrome | Infectious Diseases | myeloperoxidase deficiency | phagocytic disorder | chemotaxis | Chediak-Higashi syndrome | MIGRATION | CHRONIC GRANULOMATOUS-DISEASE | ISRAEL | PRIMARY-IMMUNODEFICIENCY | IMMUNOLOGY | HYPER-IGE SYNDROME | NEUTROPHIL DYSFUNCTION | MUTATION | JEWISH | Recurrence | Humans | Middle Aged | Leukocyte Disorders - immunology | Neutrophils - immunology | Child, Preschool | Infant | Male | Superoxides - immunology | Young Adult | Leukocyte Disorders - diagnosis | Bacterial Infections - immunology | Adolescent | Adult | Female | Chemotaxis - immunology | Child | Mycoses - immunology | Infant, Newborn | Phagocytosis | Staphylococcus aureus | Phosphates | Medical colleges | Medical research | Immunoglobulins | Immunoglobulin E | Superoxide | Glucose | Dextrose | Medicine, Experimental | Respiratory tract diseases | Universities and colleges | Children | Health aspects | Aphthous stomatitis | Drugs | Pediatrics | Chronic granulomatous disease | Demography | Recurrent infection | Central nervous system | Data processing | Leukocytes (neutrophilic) | Chemotaxis | Phagocytes | Persistent infection | Abscesses | Sepsis | Peroxidase | Bone | Glucosephosphate dehydrogenase | Lymphadenitis | Joints
Journal Article
European Journal of Clinical Investigation, ISSN 0014-2972, 02/2019, Volume 49, Issue 2, p. e13047
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 11, p. e13659
Background: Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. Nonsense mutations in the affected CD18 (ITB2) gene have... 
AMINOGLYCOSIDES | INTEGRINS | ESCHERICHIA-COLI | BIOLOGY | NONSENSE MUTATIONS | READ-THROUGH | CYSTIC-FIBROSIS | STOP MUTATIONS | TRANSLATION | SUPPRESSION | MODULATION | Leukocyte-Adhesion Deficiency Syndrome - pathology | Humans | Cytoplasm - metabolism | Infant | Male | CD18 Antigens - chemistry | Gentamicins - pharmacology | Fatal Outcome | Leukocyte-Adhesion Deficiency Syndrome - drug therapy | Protein Synthesis Inhibitors - pharmacology | Lymphocytes - metabolism | Gentamicins - therapeutic use | Leukocyte-Adhesion Deficiency Syndrome - genetics | CD18 Antigens - genetics | Cells, Cultured | Models, Molecular | Blotting, Western | CD18 Antigens - metabolism | Lymphocytes - drug effects | Protein Biosynthesis - drug effects | Protein Conformation | Cell Line, Transformed | Codon, Nonsense - genetics | Microscopy, Fluorescence | Protein Synthesis Inhibitors - therapeutic use | Tryptophan | Aminoglycosides | Genetic aspects | Codon | Analysis | Pediatrics | Disease | Laboratories | Nonsense mutation | Gentamicin | Cytotoxicity | Cell surface | Cell adhesion & migration | Proteins | Genotype & phenotype | Arginine | Lymphocytes | Rodents | Genetic analysis | Bone marrow | Aminoglycoside antibiotics | Modelling | Children | Trends | Medical research | Antigens | Genetic disorders | Hematology | CD11a antigen | Cystic fibrosis | Chemotaxis | Patients | Adhesion | Medicine | White blood cells | Antibiotics | CD18 antigen | Mutation | Immunofluorescence | Cytoplasm | Cancer
Journal Article
Blood Cells, Molecules, and Diseases, ISSN 1079-9796, 12/2015, Volume 55, Issue 4, pp. 320 - 327
Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of... 
Kavkazi jews | Chronic granulomatous disease | P47 | NCF1 | Founder effect | NADPH oxidase
Journal Article